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Aliases for RETREG3 Gene

Aliases for RETREG3 Gene

  • Reticulophagy Regulator Family Member 3 2 3 5
  • Family With Sequence Similarity 134 Member C 2 3
  • FAM134C 3 4
  • Family With Sequence Similarity 134, Member C 2
  • Reticulophagy Regulator 3 3
  • Protein FAM134C 3

External Ids for RETREG3 Gene

Previous HGNC Symbols for RETREG3 Gene

  • FAM134C

Summaries for RETREG3 Gene

GeneCards Summary for RETREG3 Gene

RETREG3 (Reticulophagy Regulator Family Member 3) is a Protein Coding gene. Diseases associated with RETREG3 include Cortical Dysplasia, Complex, With Other Brain Malformations 4. An important paralog of this gene is RETREG1.

UniProtKB/Swiss-Prot for RETREG3 Gene

  • Mediates NRF1-enhanced neurite outgrowth.

Gene Wiki entry for RETREG3 Gene

Additional gene information for RETREG3 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RETREG3 Gene

Genomics for RETREG3 Gene

GeneHancer (GH) Regulatory Elements for RETREG3 Gene

Promoters and enhancers for RETREG3 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J042607 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 +1.3 1286 3.1 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B ZNF207 PIR53494 RETREG3 TUBG1 TUBG2 DHX8 HSD17B1 ENSG00000267758 ENSG00000267002 HMGN1P29 ENSG00000267340
GH17J043322 Enhancer 1.5 Ensembl ENCODE dbSUPER 67 -712.5 -712540 1.6 CLOCK MLX ZFP64 YBX1 DMAP1 YY1 SLC30A9 ZNF213 ZNF416 ZNF143 UBTF ASB16-AS1 ENSG00000267340 DHX8 ENSG00000267002 HMGN1P29 TMUB2 NBR2 LINC00910 PLEKHH3
GH17J041674 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 33.8 +932.9 932914 5.6 HDGF HNRNPUL1 PKNOX1 SMAD1 ARNT SIN3A YBX1 ZNF2 YY1 POLR2B ENSG00000267758 RETREG3 NKIRAS2 DHX58 ACLY ENSG00000266962 TTC25 STAT5A HSD17B1 KAT2A
GH17J042419 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 21.3 +188.7 188679 5.2 PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 POLR2B CAVIN1 LOC102725238 LINC00910 HMGN1P29 NBR2 CNTD1 RETREG3 ENSG00000267758 ACLY DHX58
GH17J042015 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 22.8 +593.3 593319 2.9 HDGF PKNOX1 SMAD1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B DNAJC7 ENSG00000267758 RETREG3 CNTNAP1 ENSG00000259623 STAT5A ACLY NAGLU ENSG00000266962 NT5C3B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RETREG3 on UCSC Golden Path with GeneCards custom track

Genomic Locations for RETREG3 Gene

Genomic Locations for RETREG3 Gene
31,116 bases
Minus strand
31,116 bases
Minus strand

Genomic View for RETREG3 Gene

Genes around RETREG3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RETREG3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RETREG3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RETREG3 Gene

Proteins for RETREG3 Gene

  • Protein details for RETREG3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Reticulophagy regulator 3
    Protein Accession:
    Secondary Accessions:
    • B3KR75

    Protein attributes for RETREG3 Gene

    466 amino acids
    Molecular mass:
    51396 Da
    Quaternary structure:
    • Interacts with ATG8 family modifier proteins MAP1LC3A, MAP1LC3B, GABARAP, and GABARAPL1.

    Alternative splice isoforms for RETREG3 Gene


neXtProt entry for RETREG3 Gene

Post-translational modifications for RETREG3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RETREG3 Gene

Domains & Families for RETREG3 Gene

Gene Families for RETREG3 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for RETREG3 Gene


Suggested Antigen Peptide Sequences for RETREG3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • The LIR motif interacts with ATG8 family proteins.
  • Belongs to the RETREG family.
  • The LIR motif interacts with ATG8 family proteins.
  • Belongs to the RETREG family.
genes like me logo Genes that share domains with RETREG3: view

Function for RETREG3 Gene

Molecular function for RETREG3 Gene

UniProtKB/Swiss-Prot Function:
Mediates NRF1-enhanced neurite outgrowth.

Phenotypes From GWAS Catalog for RETREG3 Gene

Gene Ontology (GO) - Molecular Function for RETREG3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with RETREG3: view
genes like me logo Genes that share phenotypes with RETREG3: view

Animal Models for RETREG3 Gene

MGI Knock Outs for RETREG3:

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RETREG3 Gene

Localization for RETREG3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RETREG3 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RETREG3 gene
Compartment Confidence
plasma membrane 3
nucleus 2
cytosol 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear membrane (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RETREG3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with RETREG3: view

Pathways & Interactions for RETREG3 Gene

SuperPathways for RETREG3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RETREG3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010976 positive regulation of neuron projection development IMP,IEA 23939472
genes like me logo Genes that share ontologies with RETREG3: view

No data available for Pathways by source and SIGNOR curated interactions for RETREG3 Gene

Drugs & Compounds for RETREG3 Gene

No Compound Related Data Available

Transcripts for RETREG3 Gene

mRNA/cDNA for RETREG3 Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RETREG3 Gene

No ASD Table

Relevant External Links for RETREG3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for RETREG3 Gene

NURSA nuclear receptor signaling pathways regulating expression of RETREG3 Gene:


Evidence on tissue expression from TISSUES for RETREG3 Gene

  • Nervous system(4.9)
  • Liver(4.2)
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RETREG3 Gene

Orthologs for RETREG3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RETREG3 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia FAM134C 34 33
  • 99.86 (n)
(Canis familiaris)
Mammalia FAM134C 34 33
  • 92.27 (n)
(Bos Taurus)
Mammalia FAM134C 34 33
  • 91.13 (n)
(Rattus norvegicus)
Mammalia Fam134c 33
  • 90.49 (n)
(Mus musculus)
Mammalia Fam134c 34 33
  • 90.34 (n)
Retreg3 16
(Monodelphis domestica)
Mammalia FAM134C 34
  • 76 (a)
(Ornithorhynchus anatinus)
Mammalia FAM134C 34
  • 61 (a)
(Gallus gallus)
Aves FAM134C 34 33
  • 70.34 (n)
(Anolis carolinensis)
Reptilia FAM134C 34
  • 62 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia fam134c 33
  • 66.04 (n)
Str.6330 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.30959 33
(Danio rerio)
Actinopterygii fam134c 34 33
  • 61.19 (n)
Species where no ortholog for RETREG3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RETREG3 Gene

Gene Tree for RETREG3 (if available)
Gene Tree for RETREG3 (if available)
Evolutionary constrained regions (ECRs) for RETREG3: view image

Paralogs for RETREG3 Gene

Paralogs for RETREG3 Gene

genes like me logo Genes that share paralogs with RETREG3: view

Variants for RETREG3 Gene

Sequence variations from dbSNP and Humsavar for RETREG3 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs398123046 pathogenic, Cortical dysplasia, complex, with other brain malformations 4 42,610,535(-) A/G upstream_transcript_variant
rs369845244 likely-benign, not specified 42,609,689(-) C/A/G/T upstream_transcript_variant
rs1064797220 uncertain-significance, not provided 42,609,733(-) G/A upstream_transcript_variant
rs1000082779 -- 42,605,009(-) G/C genic_upstream_transcript_variant, intron_variant
rs1000205705 -- 42,589,285(-) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for RETREG3 Gene

Variant ID Type Subtype PubMed ID
esv33998 OTHER inversion 15654335
nsv1064012 CNV gain 25217958
nsv1113874 CNV deletion 24896259
nsv1146669 OTHER inversion 26484159

Variation tolerance for RETREG3 Gene

Residual Variation Intolerance Score: 27% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.29; 40.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RETREG3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RETREG3 Gene

Disorders for RETREG3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RETREG3 Gene - From: GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RETREG3

genes like me logo Genes that share disorders with RETREG3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RETREG3 Gene

Publications for RETREG3 Gene

  1. Regulation of endoplasmic reticulum turnover by selective autophagy. (PMID: 26040720) Khaminets A … Dikic I (Nature 2015) 3 4 58
  2. Novel genes FAM134C, C3orf10 and ENOX1 are regulated by NRF-1 and differentially regulate neurite outgrowth in neuroblastoma cells and hippocampal neurons. (PMID: 23939472) Wang JL … Huang AM (Gene 2013) 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for RETREG3 Gene

Sources for RETREG3 Gene

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